Linked Data
ClinVar Variation Id:
2136449
ClinVar RCV Id:
RCV003060069
dbSNP Id:
rs916531861
gnomAD v3:
15-66485132-T-C
gnomAD v4:
15-66485132-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66485132T>C , CM000677.2:g.66485132T>C | GRCh38 |
| NC_000015.9:g.66777470T>C , CM000677.1:g.66777470T>C | GRCh37 |
| NC_000015.8:g.64564524T>C | NCBI36 |
| NG_008305.1:g.103260T>C , LRG_725:g.103260T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684779.1:c.628-2096T>C | ENSP00000508681.1:n.628-2096T>C | |
| ENST00000685172.1:c.836T>C | ENSP00000509604.1:p.Val279Ala | |
| ENST00000685763.1:c.689T>C | ENSP00000509016.1:p.Val230Ala | |
| ENST00000686347.1:c.569-2096T>C | ENSP00000509027.1:n.569-2096T>C | |
| ENST00000687191.1:n.1194T>C | ||
| ENST00000687481.1:n.251T>C | ||
| ENST00000689951.1:c.887T>C | ENSP00000509308.1:p.Val296Ala | |
| ENST00000691077.1:c.*73T>C | ENSP00000509843.1:n.*73T>C | |
| ENST00000691576.1:c.707T>C | ENSP00000510066.1:p.Val236Ala | |
| ENST00000691937.1:c.836T>C | ENSP00000508768.1:p.Val279Ala | |
| ENST00000692487.1:c.*73T>C | ENSP00000509534.1:n.*73T>C | |
| ENST00000692683.1:c.770T>C | ENSP00000508437.1:p.Val257Ala | |
| ENST00000693150.1:c.692T>C | ENSP00000510309.1:p.Val231Ala | |
| ENST00000307102.10:c.836T>C MANE Select | ENSP00000302486.5:p.Val279Ala | |
| ENST00000307102.9:c.836T>C | ENSP00000302486.4:p.Val279Ala | |
| ENST00000566326.1:c.308T>C | ENSP00000456438.1:p.Val103Ala | |
| NM_002755.3:c.836T>C , LRG_725t1:c.836T>C | NP_002746.1:p.Val279Ala | |
| XM_011521783.1:c.770T>C | XP_011520085.1:p.Val257Ala | |
| XM_011521783.3:c.770T>C | XP_011520085.1:p.Val257Ala | |
| XM_017022411.2:c.758T>C | XP_016877900.1:p.Val253Ala | |
| XM_017022412.1:c.692T>C | XP_016877901.1:p.Val231Ala | |
| XM_017022413.1:c.308T>C | XP_016877902.1:p.Val103Ala | |
| NM_002755.4:c.836T>C MANE Select | NP_002746.1:p.Val279Ala |